M1V (p.Met1Val) variant of SERPINA1 (Alpha-1-antitrypsin)
M1V (p.Met1Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alpha-1-antitrypsin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1057516555
- ClinGen CA16041711
- ClinVar RCV000411735
- Likely pathogenic
- Alpha-1-antitrypsin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- MetaLR 0.77
- MetaSVM 0.58
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (Alpha-1-antitrypsin deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of… (PMID 14522813)
- Cited in: [American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of… (PMID 15685488)